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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hereditary spastic paraplegia


Other Names for this Disease
  • Familial spastic paraparesis
  • FSP
  • HSP
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Tests & Diagnosis


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How is herditary spastic paraplegia (HSP) diagnosed?

HSP is diagnosed on the basis of the following:

  • Characteristic clinical symptoms of slowly progressive weakness and stiffness in the legs often accompanied by urinary urgency
  • Neurologic examination demonstrating damage to the nerve paths connecting the spinal cord and the brain (corticospinal tract), such as spastic weakness, exaggerated reflexes, typically associated with bilateral extensor plantar responses; often accompanied by a mild inability to sense vibration in the lower part of the legs and muscle changes of the urinary bladder
  • Family history shows a pattern of inhertiance that is either autosomal dominant, autosomal recessive, or X-linked recessive inheritance
  • Identification of a disease-causing mutation in an HSP-causing gene (Such testing is increasingly available and can confirm the diagnosis of HSP.) [1]

Last updated: 10/6/2011

References
  1. Fink J. Hereditary Spastic Paraplegia Overview. GeneReviews. February 3, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1509/. Accessed 10/6/2011.